Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

292 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Substitutions for arginine at position 780 in triple helical domain of the α1(I) chain alter folding of the type I procollagen molecule and cause osteogenesis imperfecta.
Makareeva E, Sun G, Mirigian LS, Mertz EL, Vera JC, Espinoza NA, Yang K, Chen D, Klein TE, Byers PH, Leikin S. Makareeva E, et al. Among authors: byers ph. PLoS One. 2018 Jul 10;13(7):e0200264. doi: 10.1371/journal.pone.0200264. eCollection 2018. PLoS One. 2018. PMID: 29990383 Free PMC article.
Recommendations of the 2006 Human Variome Project meeting.
Cotton RG; 2006 Human Variome Project; Appelbe W, Auerbach AD, Becker K, Bodmer W, Boone DJ, Boulyjenkov V, Brahmachari S, Brody L, Brookes A, Brown AF, Byers P, Cantu JM, Cassiman JJ, Claustres M, Concannon P, Cotton RG, den Dunnen JT, Flicek P, Gibbs R, Hall J, Hasler J, Katz M, Kwok PY, Laradi S, Lindblom A, Maglott D, Marsh S, Masimirembwa CM, Minoshima S, de Ramirez AM, Pagon R, Ramesar R, Ravine D, Richards S, Rimoin D, Ring HZ, Scriver CR, Sherry S, Shimizu N, Stein L, Tadmouri GO, Taylor G, Watson M. Cotton RG, et al. Nat Genet. 2007 Apr;39(4):433-6. doi: 10.1038/ng2024. Nat Genet. 2007. PMID: 17392799
A multi-institutional experience in vascular Ehlers-Danlos syndrome diagnosis.
Shalhub S, Byers PH, Hicks KL, Coleman DM, Davis FM, De Caridi G, Weaver KN, Miller EM, Schermerhorn ML, Shean K, Oderich G, Ribeiro M, Nishikawa C, Charlton-Ouw K, Behrendt CA, Debus ES, von Kodolitsch Y, Zarkowsky D, Powell RJ, Pepin M, Milewicz DM, Regalado ES, Lawrence PF, Woo K. Shalhub S, et al. Among authors: byers ph. J Vasc Surg. 2020 Jan;71(1):149-157. doi: 10.1016/j.jvs.2019.04.487. Epub 2019 Jul 26. J Vasc Surg. 2020. PMID: 31353273 Free PMC article.
CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta.
Baldridge D, Schwarze U, Morello R, Lennington J, Bertin TK, Pace JM, Pepin MG, Weis M, Eyre DR, Walsh J, Lambert D, Green A, Robinson H, Michelson M, Houge G, Lindman C, Martin J, Ward J, Lemyre E, Mitchell JJ, Krakow D, Rimoin DL, Cohn DH, Byers PH, Lee B. Baldridge D, et al. Among authors: byers ph. Hum Mutat. 2008 Dec;29(12):1435-42. doi: 10.1002/humu.20799. Hum Mutat. 2008. PMID: 18566967 Free PMC article.
292 results